Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: A genetic syndrome?

We report on two children who may represent a novel syndrome consisting of a deficiency of immunoglobulin-bearing B lymphocytes and serum antibody, de ficient intrauterine and/or postnatal growth, intracranial calcifications, and acquired pancytopenia, Poor growth, intracranial calcifications, develo pmental delay, and hematological abnormalities are common manifestations of congenital infection, However, humoral immunodeficiency is not characteris tic in these infections, and no infection was found on extensive evaluation . Rare genetic syndromes may mimic intrauterine infections and may also inc lude immunodeficiency, However the children reported here lack important ch aracteristics or share distinctive manifestations not described in these di sorders. Infants presenting with apparent congenital infections in whom a s pecific infectious cause cannot be identified should be followed carefully with immunological evaluations since this disorder mag be progressive and c onsiderable morbidity is attributable to hematological and immunological ma nifestations. (C) 2000 Wiley-Liss, Inc.